Incidental Mutation 'R6980:Cfap74'
ID |
543756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap74
|
Ensembl Gene |
ENSMUSG00000078490 |
Gene Name |
cilia and flagella associated protein 74 |
Synonyms |
2010015L04Rik |
MMRRC Submission |
045088-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6980 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 155550809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023920]
[ENSMUST00000105619]
[ENSMUST00000151083]
[ENSMUST00000178188]
[ENSMUST00000178238]
|
AlphaFold |
Q3UY96 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023920
|
SMART Domains |
Protein: ENSMUSP00000023920 Gene: ENSMUSG00000023153
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:TMEM52
|
29 |
182 |
6.3e-83 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000105619
AA Change: V232I
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151083
AA Change: V1562I
|
SMART Domains |
Protein: ENSMUSP00000123626 Gene: ENSMUSG00000078490 AA Change: V1562I
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
coiled coil region
|
134 |
162 |
N/A |
INTRINSIC |
coiled coil region
|
333 |
378 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178188
|
SMART Domains |
Protein: ENSMUSP00000136899 Gene: ENSMUSG00000023153
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:TMEM52
|
35 |
168 |
1.1e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178238
|
SMART Domains |
Protein: ENSMUSP00000136919 Gene: ENSMUSG00000023153
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:TMEM52
|
30 |
184 |
6.2e-73 |
PFAM |
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
C |
A |
2: 25,330,878 (GRCm39) |
R1189S |
possibly damaging |
Het |
Abcf2 |
T |
C |
5: 24,770,970 (GRCm39) |
Q594R |
probably benign |
Het |
Abhd18 |
G |
A |
3: 40,888,215 (GRCm39) |
S353N |
probably benign |
Het |
Adrb1 |
G |
T |
19: 56,712,046 (GRCm39) |
A415S |
probably benign |
Het |
Art2b |
T |
C |
7: 101,229,680 (GRCm39) |
N73S |
probably benign |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
3: 95,795,451 (GRCm39) |
|
probably benign |
Het |
BC028528 |
CACTGGTTCTGTGGT |
CACTGGTTCTGTGGTTACTGGTTCTGTGGT |
3: 95,795,480 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
A |
G |
8: 85,338,914 (GRCm39) |
M1753V |
possibly damaging |
Het |
Cbx8 |
A |
T |
11: 118,930,287 (GRCm39) |
I102N |
possibly damaging |
Het |
Ccdc178 |
T |
A |
18: 22,238,620 (GRCm39) |
E332D |
probably benign |
Het |
Cdhr17 |
T |
A |
5: 17,031,944 (GRCm39) |
V533D |
possibly damaging |
Het |
Chat |
A |
T |
14: 32,146,111 (GRCm39) |
M354K |
probably benign |
Het |
Cmas |
A |
G |
6: 142,702,526 (GRCm39) |
T10A |
probably damaging |
Het |
Cyb561d1 |
A |
T |
3: 108,107,475 (GRCm39) |
L51H |
probably benign |
Het |
D030056L22Rik |
A |
T |
19: 18,694,629 (GRCm39) |
N128I |
probably damaging |
Het |
D130043K22Rik |
G |
T |
13: 25,048,764 (GRCm39) |
A423S |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,475,795 (GRCm39) |
I1349T |
probably benign |
Het |
Dnajb3 |
T |
G |
1: 88,132,736 (GRCm39) |
D222A |
probably damaging |
Het |
Dtx1 |
T |
C |
5: 120,819,422 (GRCm39) |
E592G |
probably damaging |
Het |
Dzank1 |
C |
T |
2: 144,332,056 (GRCm39) |
G427R |
possibly damaging |
Het |
E130308A19Rik |
A |
C |
4: 59,719,991 (GRCm39) |
K508Q |
probably damaging |
Het |
Eif4e1b |
T |
A |
13: 54,931,916 (GRCm39) |
|
probably null |
Het |
Ell2 |
A |
G |
13: 75,904,495 (GRCm39) |
M159V |
probably null |
Het |
Eml4 |
G |
A |
17: 83,758,446 (GRCm39) |
V377I |
probably benign |
Het |
Fryl |
A |
T |
5: 73,207,773 (GRCm39) |
S2466T |
probably benign |
Het |
Gfpt1 |
C |
A |
6: 87,054,071 (GRCm39) |
T426K |
probably damaging |
Het |
Gm49355 |
T |
C |
14: 12,307,173 (GRCm38) |
|
probably benign |
Het |
Gm5114 |
T |
C |
7: 39,058,624 (GRCm39) |
I332V |
probably benign |
Het |
Gpr15 |
T |
A |
16: 58,539,105 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,225,684 (GRCm39) |
E2157G |
probably benign |
Het |
Gramd4 |
A |
G |
15: 86,016,170 (GRCm39) |
N482S |
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,028,343 (GRCm39) |
I829K |
probably benign |
Het |
Hydin |
A |
T |
8: 111,139,916 (GRCm39) |
E728D |
possibly damaging |
Het |
Ifngr2 |
T |
A |
16: 91,356,895 (GRCm39) |
V143E |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,414,730 (GRCm39) |
D1390G |
probably benign |
Het |
Kdf1 |
A |
T |
4: 133,256,138 (GRCm39) |
D285V |
probably damaging |
Het |
Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
Mdn1 |
G |
A |
4: 32,726,942 (GRCm39) |
|
probably null |
Het |
Megf11 |
A |
G |
9: 64,613,132 (GRCm39) |
E1016G |
probably damaging |
Het |
Mixl1 |
G |
A |
1: 180,524,453 (GRCm39) |
A42V |
possibly damaging |
Het |
Mpp2 |
A |
G |
11: 101,950,154 (GRCm39) |
W567R |
probably damaging |
Het |
Mrgpra6 |
A |
G |
7: 46,838,697 (GRCm39) |
L136P |
probably damaging |
Het |
Mroh7 |
T |
A |
4: 106,557,434 (GRCm39) |
I759L |
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,500,609 (GRCm39) |
D277G |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,027,234 (GRCm39) |
K205N |
probably benign |
Het |
Or4g17 |
A |
G |
2: 111,209,620 (GRCm39) |
I92V |
possibly damaging |
Het |
Or4p4b-ps1 |
A |
G |
2: 88,453,939 (GRCm39) |
*97W |
probably null |
Het |
Or52e19b |
T |
C |
7: 103,032,303 (GRCm39) |
E302G |
probably benign |
Het |
Or5al6 |
A |
T |
2: 85,976,681 (GRCm39) |
Y132* |
probably null |
Het |
Oxnad1 |
C |
T |
14: 31,807,576 (GRCm39) |
|
probably benign |
Het |
Pamr1 |
C |
T |
2: 102,472,549 (GRCm39) |
T616I |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,866,592 (GRCm39) |
H796Y |
possibly damaging |
Het |
Pdlim7 |
G |
T |
13: 55,656,041 (GRCm39) |
D126E |
probably benign |
Het |
Pfdn2 |
C |
T |
1: 171,185,465 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,032 (GRCm39) |
|
probably null |
Het |
Pms2 |
A |
T |
5: 143,848,842 (GRCm39) |
I43L |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Ptpn4 |
T |
A |
1: 119,671,151 (GRCm39) |
E202D |
possibly damaging |
Het |
Rnf40 |
T |
A |
7: 127,193,849 (GRCm39) |
V455E |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,266,169 (GRCm39) |
N585S |
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,878,582 (GRCm39) |
S188P |
probably damaging |
Het |
Rsbn1l |
T |
A |
5: 21,101,482 (GRCm39) |
H686L |
probably benign |
Het |
Runx2 |
C |
T |
17: 45,046,203 (GRCm39) |
V107I |
possibly damaging |
Het |
Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,808,812 (GRCm39) |
D420V |
probably benign |
Het |
Sash1 |
T |
C |
10: 8,605,612 (GRCm39) |
Q926R |
probably benign |
Het |
Scgb3a2 |
T |
A |
18: 43,897,499 (GRCm39) |
I6N |
probably damaging |
Het |
Sdc3 |
T |
A |
4: 130,544,233 (GRCm39) |
|
probably benign |
Het |
Sik2 |
A |
G |
9: 50,808,755 (GRCm39) |
V658A |
probably benign |
Het |
Slc25a39 |
A |
G |
11: 102,296,601 (GRCm39) |
V81A |
probably damaging |
Het |
Snai2 |
T |
A |
16: 14,526,113 (GRCm39) |
S255T |
possibly damaging |
Het |
Sorbs1 |
A |
T |
19: 40,316,060 (GRCm39) |
Y371* |
probably null |
Het |
Spata31d1b |
A |
T |
13: 59,863,236 (GRCm39) |
H128L |
probably benign |
Het |
Spdl1 |
A |
T |
11: 34,721,706 (GRCm39) |
M1K |
probably null |
Het |
Tgm3 |
T |
A |
2: 129,868,697 (GRCm39) |
N211K |
probably benign |
Het |
Tmem116 |
T |
C |
5: 121,606,050 (GRCm39) |
|
probably null |
Het |
Tmem132e |
T |
A |
11: 82,329,212 (GRCm39) |
|
probably null |
Het |
Tmem53 |
T |
C |
4: 117,125,705 (GRCm39) |
C251R |
probably damaging |
Het |
Trcg1 |
A |
C |
9: 57,152,856 (GRCm39) |
D551A |
probably damaging |
Het |
Trp63 |
T |
A |
16: 25,620,843 (GRCm39) |
F12I |
probably benign |
Het |
Ttn |
C |
T |
2: 76,709,401 (GRCm39) |
|
probably null |
Het |
Tubgcp4 |
T |
C |
2: 121,025,946 (GRCm39) |
V596A |
probably benign |
Het |
Ugt2a3 |
A |
C |
5: 87,473,491 (GRCm39) |
H475Q |
probably damaging |
Het |
Unc79 |
G |
A |
12: 103,025,759 (GRCm39) |
R382K |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,513,662 (GRCm39) |
H327R |
possibly damaging |
Het |
Vmn2r7 |
G |
A |
3: 64,623,987 (GRCm39) |
T111I |
possibly damaging |
Het |
Zfp318 |
T |
A |
17: 46,708,138 (GRCm39) |
Y399N |
probably damaging |
Het |
|
Other mutations in Cfap74 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01607:Cfap74
|
APN |
4 |
155,503,443 (GRCm39) |
missense |
possibly damaging |
0.95 |
paranoid
|
UTSW |
4 |
155,538,481 (GRCm39) |
utr 5 prime |
probably benign |
|
sensibile
|
UTSW |
4 |
155,525,743 (GRCm39) |
missense |
probably null |
0.03 |
touchy
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
FR4304:Cfap74
|
UTSW |
4 |
155,500,217 (GRCm39) |
missense |
possibly damaging |
0.93 |
P0007:Cfap74
|
UTSW |
4 |
155,506,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
PIT4434001:Cfap74
|
UTSW |
4 |
155,548,421 (GRCm39) |
missense |
unknown |
|
R0025:Cfap74
|
UTSW |
4 |
155,510,572 (GRCm39) |
missense |
probably benign |
0.22 |
R0034:Cfap74
|
UTSW |
4 |
155,545,344 (GRCm39) |
splice site |
probably benign |
|
R0193:Cfap74
|
UTSW |
4 |
155,510,572 (GRCm39) |
missense |
probably benign |
0.22 |
R0306:Cfap74
|
UTSW |
4 |
155,549,896 (GRCm39) |
unclassified |
probably benign |
|
R0427:Cfap74
|
UTSW |
4 |
155,525,734 (GRCm39) |
missense |
probably benign |
0.02 |
R0905:Cfap74
|
UTSW |
4 |
155,503,153 (GRCm39) |
critical splice donor site |
probably null |
|
R1116:Cfap74
|
UTSW |
4 |
155,518,453 (GRCm39) |
missense |
probably benign |
0.15 |
R1548:Cfap74
|
UTSW |
4 |
155,518,502 (GRCm39) |
missense |
probably benign |
0.45 |
R1950:Cfap74
|
UTSW |
4 |
155,511,887 (GRCm39) |
critical splice donor site |
probably null |
|
R2009:Cfap74
|
UTSW |
4 |
155,504,724 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2029:Cfap74
|
UTSW |
4 |
155,526,538 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2135:Cfap74
|
UTSW |
4 |
155,514,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R2135:Cfap74
|
UTSW |
4 |
155,514,397 (GRCm39) |
missense |
probably damaging |
0.97 |
R2154:Cfap74
|
UTSW |
4 |
155,513,753 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2413:Cfap74
|
UTSW |
4 |
155,503,081 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2418:Cfap74
|
UTSW |
4 |
155,540,166 (GRCm39) |
utr 5 prime |
probably benign |
|
R2930:Cfap74
|
UTSW |
4 |
155,522,627 (GRCm39) |
missense |
probably damaging |
0.97 |
R3965:Cfap74
|
UTSW |
4 |
155,531,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4078:Cfap74
|
UTSW |
4 |
155,540,128 (GRCm39) |
missense |
probably damaging |
0.98 |
R4238:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
R4239:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
R4240:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
R4491:Cfap74
|
UTSW |
4 |
155,513,628 (GRCm39) |
missense |
probably benign |
0.22 |
R4731:Cfap74
|
UTSW |
4 |
155,548,059 (GRCm39) |
intron |
probably benign |
|
R5333:Cfap74
|
UTSW |
4 |
155,521,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R5362:Cfap74
|
UTSW |
4 |
155,522,623 (GRCm39) |
missense |
probably damaging |
0.98 |
R5425:Cfap74
|
UTSW |
4 |
155,540,149 (GRCm39) |
utr 5 prime |
probably benign |
|
R5468:Cfap74
|
UTSW |
4 |
155,510,498 (GRCm39) |
missense |
probably benign |
0.27 |
R5839:Cfap74
|
UTSW |
4 |
155,507,207 (GRCm39) |
critical splice donor site |
probably null |
|
R6010:Cfap74
|
UTSW |
4 |
155,538,495 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6284:Cfap74
|
UTSW |
4 |
155,536,253 (GRCm39) |
missense |
probably damaging |
0.96 |
R6323:Cfap74
|
UTSW |
4 |
155,548,395 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6389:Cfap74
|
UTSW |
4 |
155,507,793 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6513:Cfap74
|
UTSW |
4 |
155,525,743 (GRCm39) |
missense |
probably null |
0.03 |
R6527:Cfap74
|
UTSW |
4 |
155,506,722 (GRCm39) |
splice site |
probably null |
|
R6785:Cfap74
|
UTSW |
4 |
155,538,481 (GRCm39) |
utr 5 prime |
probably benign |
|
R7039:Cfap74
|
UTSW |
4 |
155,538,565 (GRCm39) |
critical splice donor site |
probably null |
|
R7077:Cfap74
|
UTSW |
4 |
155,540,134 (GRCm39) |
missense |
unknown |
|
R7116:Cfap74
|
UTSW |
4 |
155,539,518 (GRCm39) |
missense |
unknown |
|
R7202:Cfap74
|
UTSW |
4 |
155,510,654 (GRCm39) |
splice site |
probably null |
|
R7227:Cfap74
|
UTSW |
4 |
155,545,405 (GRCm39) |
nonsense |
probably null |
|
R7228:Cfap74
|
UTSW |
4 |
155,549,507 (GRCm39) |
missense |
unknown |
|
R7261:Cfap74
|
UTSW |
4 |
155,549,831 (GRCm39) |
missense |
unknown |
|
R7315:Cfap74
|
UTSW |
4 |
155,547,476 (GRCm39) |
missense |
unknown |
|
R7337:Cfap74
|
UTSW |
4 |
155,544,472 (GRCm39) |
missense |
unknown |
|
R7354:Cfap74
|
UTSW |
4 |
155,549,804 (GRCm39) |
missense |
unknown |
|
R7533:Cfap74
|
UTSW |
4 |
155,500,200 (GRCm39) |
missense |
|
|
R7673:Cfap74
|
UTSW |
4 |
155,547,513 (GRCm39) |
missense |
unknown |
|
R7798:Cfap74
|
UTSW |
4 |
155,507,079 (GRCm39) |
missense |
|
|
R7829:Cfap74
|
UTSW |
4 |
155,513,694 (GRCm39) |
missense |
|
|
R7897:Cfap74
|
UTSW |
4 |
155,514,351 (GRCm39) |
missense |
|
|
R8099:Cfap74
|
UTSW |
4 |
155,539,489 (GRCm39) |
missense |
unknown |
|
R8126:Cfap74
|
UTSW |
4 |
155,511,831 (GRCm39) |
missense |
|
|
R8769:Cfap74
|
UTSW |
4 |
155,503,105 (GRCm39) |
missense |
|
|
R8873:Cfap74
|
UTSW |
4 |
155,539,465 (GRCm39) |
missense |
unknown |
|
R8893:Cfap74
|
UTSW |
4 |
155,531,152 (GRCm39) |
missense |
unknown |
|
R8900:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
R8954:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
R8957:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
R8982:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
R9008:Cfap74
|
UTSW |
4 |
155,503,121 (GRCm39) |
missense |
|
|
R9406:Cfap74
|
UTSW |
4 |
155,510,626 (GRCm39) |
nonsense |
probably null |
|
R9606:Cfap74
|
UTSW |
4 |
155,509,133 (GRCm39) |
missense |
|
|
R9641:Cfap74
|
UTSW |
4 |
155,549,054 (GRCm39) |
missense |
unknown |
|
R9647:Cfap74
|
UTSW |
4 |
155,549,373 (GRCm39) |
missense |
unknown |
|
R9655:Cfap74
|
UTSW |
4 |
155,522,665 (GRCm39) |
missense |
|
|
R9761:Cfap74
|
UTSW |
4 |
155,550,844 (GRCm39) |
missense |
unknown |
|
R9797:Cfap74
|
UTSW |
4 |
155,514,402 (GRCm39) |
missense |
|
|
T0970:Cfap74
|
UTSW |
4 |
155,547,574 (GRCm39) |
splice site |
probably null |
|
X0066:Cfap74
|
UTSW |
4 |
155,548,421 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cfap74
|
UTSW |
4 |
155,510,575 (GRCm39) |
missense |
|
|
Z1177:Cfap74
|
UTSW |
4 |
155,539,370 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTACCACCTGCTGACTTTG -3'
(R):5'- AGGAATTAGCTATGTCTGTAGGGC -3'
Sequencing Primer
(F):5'- ACCACCTGCTGACTTTGATGTAGG -3'
(R):5'- ACTTGAACCTTTCCAGCAGGG -3'
|
Posted On |
2019-05-13 |